不同临床表现的Muir-Torre综合征

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL

Bahrain Medical Bulletin Pub Date : 2017-09-01 DOI:10.12816/0047641

Jaffar Y. Al Khuzaie, Mariam AlKooheji, Abdulhadi Algargoush

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引用次数: 0

摘要

癌症相关的遗传性皮肤病，如Muir-Torre综合征是一种与皮肤体征相关的遗传性癌症综合征。Muir-Torre综合征是由错配修复基因突变引起的常染色体显性综合征，被认为是Lynch综合征的一种亚型1,2。其特征是在没有其他诱发因素的情况下，至少存在一种皮脂腺肿瘤(腺瘤、上皮瘤、癌或角棘瘤)和内脏恶性肿瘤3,4。

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Muir-Torre Syndrome with Different Clinical Presentations

Cancer-associated genodermatoses, such as Muir-Torre syndrome are hereditary cancer syndromes associated with distinguishing cutaneous signs. Muir-Torre syndrome is an autosomal dominant syndrome caused by mutations in the mismatch repair genes and is thought to be a subtype of Lynch syndrome1,2. It is characterized by the presence of at least one sebaceous skin tumor (adenoma, epithelioma, carcinoma or keratoacanthoma) and a visceral malignancy, in the absence of other precipitating factors3,4.

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来源期刊

Bahrain Medical Bulletin MEDICINE, GENERAL & INTERNAL-

CiteScore

0.60

自引率

50.00%

发文量

期刊介绍： The Bahrain Medical Bulletin is published every three months appearing in March, June, September and December. It is indexed in the World Health Organization Index Medicus for Eastern Mediterranean Region (IMEMRI), Extramed of the United Kingdom and International Serial Data System of France. Everything we publish is freely available online throughout the world, for you to read, download, copy, distribute, and use (with attribution) any way you wish. No permission required.